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C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis
OBJECTIVE: An intronic GGGGCC-repeat expansion of C9ORF72 is the most common genetic variant of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. The mechanism of neurodegeneration is unknown, but a direct effect on RNA processing mediated by RNA foci transcribed from the repeat seque...
Gorde:
| Argitaratua izan da: | PLoS One |
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| Egile Nagusiak: | , , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Public Library of Science
2015
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4446097/ https://ncbi.nlm.nih.gov/pubmed/26016851 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0127376 |
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